GENETIC MARKERS IN GYNECOLOGIC ONCOLOGY: UNDERSTANDING HEREDITARY RISKS AND MUTATIONS
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Keywords
hereditary cancer, gynecologic oncology, BRCA mutations, mismatch repair deficiency, genetic risk, primary data, molecular markers
Abstract
The research question of the study is the patterns of the risk of hereditary cancer and the awareness of genetic markers in women undergoing gynecologic evaluation. A questionnaire with a structured questionnaire was used to gather primary data by the administration of a questionnaire to ninety respondents to evaluate their knowledge of BRCA and mismatch repair mutation, previous genetic testing, and perceived cancer risk. The findings showed that the percentage of the participants who reported a family history of breast, ovarian, endometrial or colorectal cancer was quite high, which implied that the participants had a hereditary predisposition. The awareness of BRCA mutations exceeded that of mismatch repair defects, but clinically performed pathogenic mutations were detected in only a small proportion of the respondents. There was different risk perception where most of the participants perceived themselves to be moderate risk. These results indicate that awareness of hereditary cancer is growing but there are still gaps in the knowledge on the genetic pathways and genetic testing. The improvement of prevention and individualized therapy in gynecologic oncology is necessary through the strengthening of genetic counseling, the development of diagnostic services, and the promotion of early assessment of hereditary risks.
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Dr Bibekananda Das
Associate professor Dept of obstetrics and gynaecology Barasat govt medical college and Hospital, Barasat north 24 pgs Kolkata
Dr Kajal Kumar Patra
Ex professor and HOD Gynaecology and obstetrics GouriDevi institute of medical science Durgapur west Bengal India